Social Networks

Facebook

Preparing to see your baby’s PKU specialist

Knowing what to ask about PKU

Soon after your newborn baby is diagnosed with Phenylketonuria (PKU), you’ll have a chance to sit down with your PKU specialist, who will take time to answer your questions.

Before the visit, read what you can to become familiar with the disorder. Your dietitian or nutritionist may have given you literature and there are various websites that can help too (see PKU directories for specialised websites).

Download a list of questions to add to your own about breastfeeding and ways to manage blood Phenylalanine (Phe) levels.

Guide to raising a newborn baby with PKU

A guide to the early months including answers to questions about your new baby’s health.

Frequently asked questions about PKU and treatment options.

Receive the latest information about PKU, treatment options and tips on how to manage your family and social life.

Neurotoxic

A substance or agent which is damaging to the brain.

Nutritionist

See dietitian/nutritionist.

PAH (Phenylalanine Hydroxylase)

An enzyme which works together with Tetrahydrobiopterin (BH4) to convert Phenylalanine (Phe) to Tyrosine (Tyr) in the liver. A deficiency in PAH results in high Phenylalanine levels in the blood, which is the biochemical hallmark of Phenylketonuria (PKU).

Phenotype

An observable characteristic or trait of an organism. Phenotypes result from the expression of an organism’s genes as well as the influence of environmental factors.

phenylalanine (Phe) tolerance

The quantity of Phe a patient may consume without a significant increase in her or his target blood Phe levels. Usually expressed as daily intake.

Phenylalanine (Phe)

A building block of protein, and one of the 10 essential amino acids. An inability to metabolize excess phenylalanine is the characteristic feature of Phenylketonuria (PKU). When the blood concentration of Phenylalanine exceeds what is considered a healthy level, excess amounts may build up in the brain, causing mental retardation.

Phenylalanine Hydroxylase

See PAH.

Phenylketonuria

See PKU.

PKU (Phenylketonuria)

An inherited metabolic defect in protein metabolism. In PKU, the Phenylalanine Hydroxylase (PAH) enzyme is unable to convert Phenylalanine to Tyrosine, resulting in a build-up of Phenylalanine (Phe) in the blood that eventually passes into the brain, causing mental retardation and other neurological problems.

Protein

A type of molecule produced by the body from Amino acids.